Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Mustafa K, Khokha"'
Autor:
Salimata Diarra, Saikat Ghosh, Lassana Cissé, Thomas Coulibaly, Abdoulaye Yalcouyé, George Harmison, Salimata Diallo, Seybou H. Diallo, Oumar Coulibaly, Alice Schindler, Cheick A.K. Cissé, Alassane B. Maiga, Salia Bamba, Oumar Samassekou, Mustafa K. Khokha, Emily K. Mis, Saquib A. Lakhani, Frank X. Donovan, Steve Jacobson, Craig Blackstone, Cheick O. Guinto, Guida Landouré, Juan S. Bonifacino, Kenneth H. Fischbeck, Christopher Grunseich
Publikováno v:
Neurobiology of Disease, Vol 198, Iss , Pp 106537- (2024)
Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three c
Externí odkaz:
https://doaj.org/article/ae7527cfc144494db6ca02e0b1ec3625
Autor:
Jessen V. Bredeson, Austin B. Mudd, Sofia Medina-Ruiz, Therese Mitros, Owen Kabnick Smith, Kelly E. Miller, Jessica B. Lyons, Sanjit S. Batra, Joseph Park, Kodiak C. Berkoff, Christopher Plott, Jane Grimwood, Jeremy Schmutz, Guadalupe Aguirre-Figueroa, Mustafa K. Khokha, Maura Lane, Isabelle Philipp, Mara Laslo, James Hanken, Gwenneg Kerdivel, Nicolas Buisine, Laurent M. Sachs, Daniel R. Buchholz, Taejoon Kwon, Heidi Smith-Parker, Marcos Gridi-Papp, Michael J. Ryan, Robert D. Denton, John H. Malone, John B. Wallingford, Aaron F. Straight, Rebecca Heald, Dirk Hockemeyer, Richard M. Harland, Daniel S. Rokhsar
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Frogs are an ecologically diverse and phylogenetically ancient group of anuran amphibians that include important vertebrate cell and developmental model systems, notably the genus Xenopus. Here we report a high-quality reference genome seque
Externí odkaz:
https://doaj.org/article/9f0d24ceb42e45d88c1f3bffc99c544b
Autor:
Emily Sempou, Valentyna Kostiuk, Jie Zhu, M. Cecilia Guerra, Leonid Tyan, Woong Hwang, Elena Camacho-Aguilar, Michael J. Caplan, David Zenisek, Aryeh Warmflash, Nick D. L. Owens, Mustafa K. Khokha
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Abstract Transitioning from pluripotency to differentiated cell fates is fundamental to both embryonic development and adult tissue homeostasis. Improving our understanding of this transition would facilitate our ability to manipulate pluripotent cel
Externí odkaz:
https://doaj.org/article/58862aeb53a640a4ba563a0187c09257
Autor:
Matthew P. O’Brien, Marina V. Pryzhkova, Evelyn M. R. Lake, Francesca Mandino, Xilin Shen, Ruchika Karnik, Alisa Atkins, Michelle J. Xu, Weizhen Ji, Monica Konstantino, Martina Brueckner, Laura R. Ment, Mustafa K. Khokha, Philip W. Jordan
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 1, p 430 (2023)
Up to 50% of patients with severe congenital heart disease (CHD) develop life-altering neurodevelopmental disability (NDD). It has been presumed that NDD arises in CHD cases because of hypoxia before, during, or after cardiac surgery. Recent studies
Externí odkaz:
https://doaj.org/article/5e913b781ba2448aafbf6fb6c995f84b
Publikováno v:
eLife, Vol 11 (2022)
Wnt signaling is essential for many aspects of embryonic development including the formation of the primary embryonic axis. In addition, excessive Wnt signaling drives multiple diseases including cancer, highlighting its importance for disease pathog
Externí odkaz:
https://doaj.org/article/d933d1a8959a4002b249ff633eca47b2
Autor:
Emily Sempou, Valentyna Kostiuk, Jie Zhu, M. Cecilia Guerra, Leonid Tyan, Woong Hwang, Elena Camacho-Aguilar, Michael J. Caplan, David Zenisek, Aryeh Warmflash, Nick D. L. Owens, Mustafa K. Khokha
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/32a4bc62762c4d869617691f1d6c7801
Autor:
Saurabh Kulkarni, Jonathan Marquez, Priya Date, Rosa Ventrella, Brian J Mitchell, Mustafa K Khokha
Publikováno v:
eLife, Vol 10 (2021)
How cells count and regulate organelle number is a fundamental question in cell biology. For example, most cells restrict centrioles to two in number and assemble one cilium; however, multiciliated cells (MCCs) synthesize hundreds of centrioles to as
Externí odkaz:
https://doaj.org/article/d69fc25fa3c6443c9d206f9e9191361b
Autor:
Ibrahim Sandokji, Jonathan Marquez, Weizhen Ji, Cynthia A. Zerillo, Monica Konstantino, Saquib A. Lakhani, Mustafa K. Khokha, Jillian K. Warejko
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-5 (2019)
Abstract Background Monogenic mutations may be a significant cause of steroid-resistant nephrotic syndrome. NUP93 is a gene previously reported to cause isolated steroid-resistant nephrotic syndrome. Case presentation Here we describe a case of reces
Externí odkaz:
https://doaj.org/article/6e66b4c73d0842e894259d5ccb549e3c
Autor:
Vaughn, Colleluori, Mustafa K, Khokha
Publikováno v:
Developmental Biology. 495:42-53
Congenital Heart Disease (CHD) is the most common birth defect and leading cause of infant mortality, yet molecular mechanisms explaining CHD remain mostly unknown. Sequencing studies are identifying CHD candidate genes at a brisk rate including MINK
Autor:
Victor N Rivas, K Gary Magdesian, Sophia Fagan, Nathan M Slovis, Daniela Luethy, Laura H Javsicas, Brian G Caserto, Andrew D Miller, Anna R Dahlgren, Janel Peterson, Erin N Hales, Sichong Peng, Katherine D Watson, Mustafa K Khokha, Carrie J Finno
Publikováno v:
PLoS Genetics, Vol 16, Iss 9, p e1009028 (2020)
Idiopathic hypocalcemia in Thoroughbred (TB) foals causes tetany and seizures and is invariably fatal. Based upon the similarity of this disease with human familial hypoparathyroidism and occurrence only in the TB breed, we conducted a genetic invest
Externí odkaz:
https://doaj.org/article/2c1034f6661f44d2a4f15c4d1f2245bc